Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.
Dora Batia Dyne SteelAikaterini VezyroglouKaty BarwickMartin SmithJulie VogtFrances M GibbonJ Helen CrossManju A KurianPublished in: Movement disorders : official journal of the Movement Disorder Society (2022)